[Whole-genome sequencing and its application in the research and diagnoses of genetic diseases].

Abstract excerpt

Recently, with the decreasing cost of DNA sequencing and improving strategy of data analysis, whole-genome sequencing (WGS) has been used for detection of pathogenic genes in cancer, Mendelian diseases and other complex diseases and gradually become applicable for clinical diagnosis. WGS enables not only the identification of single nucleotide variants (SNVs), insertions and deletions (InDels) both in coding...

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